Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Amber
- Literature
Phenotypes
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
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Version 4.21
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Removed
- Victorian Clinical Genetics Services
Phenotypes
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
- new-gene-name
- curated_removed
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
|
Version 3.41
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
- new-gene-name
- curated_removed
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.110
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.19
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review Green
- Literature
Phenotypes
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Cystic renal disease
Paediatric disorders
Rare multisystem ciliopathy Super panel
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
- Expert Review Green
- Literature
Phenotypes
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.22
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
- Expert Review Green
- Literature
Phenotypes
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Red
- London North GLH
Phenotypes
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
|
Version 1.184
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- {Epilepsy, juvenile myoclonic, susceptibility to, 10}, OMIM:617924
- Endocrine-cerebroosteodysplasia, OMIM:612651
- Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
|